Varaico: Literature-Extracted Genetic Variants

Gene:THRA
Variant:p.L274R

THRA

276 papers

RefSeq Summary

The protein encoded by this gene is a nuclear hormone receptor for triiodothyronine. It is one of the several receptors for thyroid hormone, and has been shown to mediate the biological activities of ...

Pfam Domains

zf-C4aa 51–122UCSCDouble treble clef zinc finger, C4 type
Hormone_recepaa 204–379UCSCLigand-binding domain of nuclear hormone receptor

Gene Aliases

HGNC Name

thyroid hormone receptor alpha

HGNC Previous Symbols

THRA1; THRA2; ERBA1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_199334.5
p.L274R
c.821T>G
Surrounding Variants
17 papers
NM_199334.5
p.L274P
c.821T>C
1 paper
NM_199334.5
p.T275M
c.824C>T
1 paper
NM_199334.5
p.L276_M280del5
c.826_839del15
7 papers
NM_199334.5
p.T273A
c.817A>G
1 paper
NM_199334.5
p.S271N
c.812G>A
1 paper
NM_199334.5
p.S271I
c.812G>T
1 paper
NM_199334.5
p.G278V
c.833G>T
1 paper
NM_199334.5
p.P269L
c.806C>T
1 paper
NM_199334.5
p.D268N
c.802G>A
1 paper
NM_199334.5
p.R266H
c.797G>A
1 paper
NM_199334.5
p.R266L
c.797G>T
1 paper
NM_199334.5
p.K283Q
c.847A>C
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